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Article

Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.

Medicina (Kaunas, Lithuania) - 11 May 2024

Piergentili Marco, Spagnuolo Vito, Murro Vittoria, Mucciolo Dario Pasquale, Giorgio Dario, Passerini Ilaria, Pelo Elisabetta, Giansanti Fabrizio, Virgili Gianni, Sodi Andrea

Abstract excerpt

Purpose: To describe an atypical phenotypic pattern of late-onset retinitis pigmentosa (RP) due to the same specific c.425A>G (p.Tyr142Cys) heterozygous mutation in the cone-rod homeobox gene (CRX gene) in two unrelated Italian patients. Case 1: A 67-year-old woman (P.P.) was incidentally diagnosed with sector RP at the age of 50. The patient was initially asymptomatic and did not have any family history of...

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Identifiers

PMID: 38792980
DOI: 10.3390/medicina60050797
PMCID: PMC11123195

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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